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ACTIVE NOT RECRUITING
NCT02461420

Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome

Sponsor: Boston Children's Hospital

View on ClinicalTrials.gov

Summary

The purpose of this study is to comprehensively characterize PMS using standardized medical, cognitive, and behavioral measures and to track the natural history of the syndrome using repeated longitudinal assessments. In addition, this study will be aiming to identify biomarkers using neuroimaging, including diffusion tensor imaging and identify genetic factors which contribute to diverse phenotypes in patients with PMS.

Key Details

Gender

All

Age Range

18 Months - Any

Study Type

OBSERVATIONAL

Enrollment

205

Start Date

2015-05

Completion Date

2026-12

Last Updated

2025-02-17

Healthy Volunteers

Yes

Locations (5)

Stanford University

Stanford, California, United States

Rush University Medical Center

Chicago, Illinois, United States

National Institutes of Health

Bethesda, Maryland, United States

Boston Children's Hospital

Boston, Massachusetts, United States

Icahn School of Medicine at Mount Sinai

New York, New York, United States